Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(753): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGC CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCC CACCACCATTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04199.hp2 HG01074.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0258 a0001c0001t0001g0025 a0001c0001t0001g0258	2	313	0.0064	760	c.513 others(775): Show c.513-959_513-958insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG CTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CYP4F11_chr19_15907377_15939529	15932010	G G	GAATGAGT others(753): Show GAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGA GCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAG GAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGA GCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAG GAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGA GCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAG GAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGA GCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGTGGGCAGAG GAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGA GCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAG GAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGA GCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAG GAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGA GCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAG GAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGA GCGGGCAGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0054 a0001c0004t0027g0054	1	384	0.0026	760	c.198 others(777): Show c.198+2200_198+2201insTCTCTGCCCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTCCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCA TTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCACTCACTCA TTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCC CGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCC CGCTCACTCATTCCTCTGCCCGCTCACTCATT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933132	A A	ATGAGTGA others(753): Show ATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0161 a0001c0002t0008g0161	1	371	0.0027	760	c.198 others(777): Show c.198+1078_198+1079insCTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACT CACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTG CCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACT CACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTG CCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933365	G G	GAGAGGAA others(753): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGAGGAGAGGAGTGAGTGAGCGAGCAGAGGAGTGAGTGAGCGAG CAGAGGAGTGAGTGAGCGAGCAGAGGAGTGAGTGAGCGAGAAGAGGAGTG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0035 a0002c0001t0035	a0002c0001t0035g0299 a0002c0001t0035g0299	1	329	0.0030	760	c.198 others(775): Show c.198+845_198+846insGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCACTCCTCTTCTCGCTCAC TCACTCCTCTGCTCGCTCACTCACTCCTCTGCTCGCTCACTCACTCCTCT GCTCGCTCACTCACTCCTCTCCTCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933365	G G	GAGAGGAG others(753): Show GAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0193 a0002c0001t0007g0193	1	329	0.0030	760	c.198 others(775): Show c.198+845_198+846insGCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT GCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT GCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTGCCCGCTCACTCACTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(753): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGTGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGGAGGG GGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGG GGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGA GGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGG GAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGG GGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0071 a0001c0001t0006g0071	1	97	0.0103	760	c.923 others(779): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCC CCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCC TCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCACTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTC CCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIP2C_chr10_269201_694668	516584	A A	ACAGGGGT others(753): Show ACAGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACA GGGGTAGGGTGGGAGGGGGGGGACAGGGGTAGGGTGGGGGGGGGACAGGG GTAGGGTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACAGGGGG TAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAG GGTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGT GGGAGGGGGGACAGGGGGTAGGGTGGGAGGGGGGACAGGGGGTAGGGTGG GAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAG GGGGGACAGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAGGGGG GACAGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAGGGGGGGAC AGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAGGGGGGACAGGG GTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACAGGGGTA GGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGACAGGGGTAGGG TGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGG GAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGG GGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGGGGGGACAG GGGGTAGGGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	44	0.0227	760	c.86- others(777): Show c.86-30055_86-30054insCACCCTACCCCCTGTCCCCCCCCACCCT ACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCC CGTCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCC CCCCTCCCACCCTACCCCTGTCCCCCCCTCCCACCCTACCCCTGTCCCCC CCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCTGTCCCCCCCT CCCACCCTACCCCTGTCCCCCCTCCCACCCTACCCCTGTCCCCCCTCCCA CCCTACCCCTGTCCCCCCTCCCACCCTACCCCTGTCCCCCCCTCCCACCC TACCCCTGTCCCCCCTCCCACCCTACCCCTGTCCCCCCTCCCACCCTACC CCTGTCCCCCCTCCCACCCTACCCCTGTCCCCCCTCCCACCCTACCCCTG TCCCCCCTCCCACCCTACCCCTGTCCCCCCCTCCCACCCTACCCCCTGTC CCCCCTCCCACCCTACCCCCTGTCCCCCCTCCCACCCTACCCCTGTCCCC CCTCCCACCCTACCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCC CCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTC CCACCCTACCCCTGTCCCCCCCTCCCACCCTACCCCTGTCCCCCCCCCAC CCTACCCCTGTCCCCCCCCTCCCACCCTACCCCTGTCCCCCCCTCCCACC CTACCCCTGTCCCCCCTCCCACCCTACCCCTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGGGAGA others(753): Show GAGGGAGAGGGAGAGGGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG AGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGAC AGAGACAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	233	0.0043	760	c.29 others(771): Show c.2942_*2943insAGGGAGAGGGAGAGGGGAGGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGACAGACAGAGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
EDEM2_chr20_35110364_35152336	35149141	A A	AGGCTTTG others(753): Show AGGCTTTGTCTCCTTTGGTCCCACATCCCTGAAAAACATCCCCCAAGTAA GTGTCTCAAAATGCTATCCGTTGACAGAATTAATCCCTGACAACCCAGAG AGATTGAGGTGATATAGCCTAGAGGCTAAAAGTATGGGCTTTATATTTGG GGCAGACCTGAGTTGGAGTACGAGTTTCATCACCTGTTAGGATGTGACCC TGCCAGTTTTTCTCTGAGCCTCAGTTATCTCATCTGTACAATAGGAATAA TATTAGTACCTAGTTAATATGATTGTGAGGATTTGGTGAGCTATTGCATT GTAAAATGCCTGGCATAGTGTCTGGCAGAAGAGACACTCAGTAAATATTA GGATTTATTTATTTATTTATTTATTTAAATTTTTTTCTTTGAGATGGAGT TTCATTCTTGTCACCCAGGCTGGAGTGGTGCTATCTCAGCTCACTGCAAC CTCCACCTTCTGGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAG CTGGGATTACAGGCGCCTGCCACTGCGCCCAGCTAATTTTTTATATCTTG TCACCCAAGGCTGGAGTGGTGCTATCTCAGCTCACTGCAACCTCCACCTT CTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTAC AGGCGCCTGCCACTGCGCCCAGCTAATTTTTATATTTTTAGTAGAGACGG GGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAT CCACCCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	175	0.0057	760	c.-18 others(771): Show c.-1884_-1883insGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATATAAAA ATTAGCTGGGCGCAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAAGC TGAGGCAGGAGAATCGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCTG AGATAGCACCACTCCAGCCTTGGGTGACAAGATATAAAAAATTAGCTGGG CGCAGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGA GAATCGCTTGAACCCCAGAAGGTGGAGGTTGCAGTGAGCTGAGATAGCAC CACTCCAGCCTGGGTGACAAGAATGAAACTCCATCTCAAAGAAAAAAATT TAAATAAATAAATAAATAAATAAATCCTAATATTTACTGAGTGTCTCTTC TGCCAGACACTATGCCAGGCATTTTACAATGCAATAGCTCACCAAATCCT CACAATCATATTAACTAGGTACTAATATTATTCCTATTGTACAGATGAGA TAACTGAGGCTCAGAGAAAAACTGGCAGGGTCACATCCTAACAGGTGATG AAACTCGTACTCCAACTCAGGTCTGCCCCAAATATAAAGCCCATACTTTT AGCCTCTAGGCTATATCACCTCAATCTCTCTGGGTTGTCAGGGATTAATT CTGTCAACGGATAGCATTTTGAGACACTTACTTGGGGGATGTTTTTCAGG GATGTGGGACCAAAGGAGACAAAGCC	EDEM2	ENSG00000088298.13	transcript	ENST00000374492.8	protein_coding		1806		chr20	TogoVar
EIPR1_chr2_3183970_3382818	3331347	G G	GAGCAGAG others(753): Show GAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAG GTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACAC CCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGT GTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGC AGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATAC ACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATG GTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAG GCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTAT ACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGA TGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAG AGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGT ATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGA GATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGC AGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGT GTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCAT GAGATGGTGTC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18995.hp1 NA18945.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0219 a0001c0001t0001g0076 a0001c0001t0001g0219	2	95	0.0211	760	c.259 others(777): Show c.259+6669_259+6670insGACACCATCTCATGGGTGTATACACACC TGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGA CACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATG GGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACA CCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCT GACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCA TGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACA CACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTG CTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCT CATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATA CACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTC TGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCAT CTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTA TACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCC TCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACC ATCTCATGGGTGTATACACACCTGCCTCTGCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331423	G G	GAGCAGAG others(753): Show GAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAG GTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACAC CCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGT GTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGC AGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATAC ACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATG GTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAG GCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTAT ACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGA TGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAG AGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGT ATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGA GATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGC AGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGT GTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCAT GAGATGGTGTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	90	0.0111	760	c.259 others(777): Show c.259+6593_259+6594insGACACCATCTCATGGGTGTATACACACC TGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGA CACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATG GGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACA CCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCT GACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCA TGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACA CACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTG CTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCT CATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATA CACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTC TGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCAT CTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTA TACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCC TCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACC ATCTCATGGGTGTATACACACCTGCCTCTGCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
F10_chr13_113117799_113154529	113151682	A A	AAAGTGAT others(753): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTC CGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGA GCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCT GAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGC AGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGAGAG TGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAG GTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGG GAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCAC GGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAG AGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGG GGAGTAAAGATGGGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	79	0.0127	760	c.21 others(771): Show c.2165_*2166insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGG TGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGA CCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGA AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTC CGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGA GCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCT GAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGC AGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGAGAG TGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAG GTCACGGTGGGGAGCGAAGGTGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2154		chr13	TogoVar
FMN2_chr1_240086883_240480187	240185174	T T	TTCCCCCT others(753): Show TTCCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTACACCTTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCTTCTCTTTCTCCCTCCTACACCTTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTC CCTCCTATACC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0001 a0002c0024t0001	a0002c0024t0001g0079 a0002c0024t0001g0079	1	161	0.0062	760	c.193 others(779): Show c.1931-3032_1931-3031insCCCCCTTCTCTTTCTCCCTCCTATAC CTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTACACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTACACCTT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTGCCCCTTCTCTTTCTCCCTCCTATACCT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(753): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCC TCTCACCCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCCCTCCC TCTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCC TCTTTCTCCTTCCCGCTCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGC TCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCG CTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTC CCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCT CCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCC CCTCTCCTCCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTG CCCTCTCTCCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCT CTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCC CTTTCCCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCC TCTTTCCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTCTGTCCCCCTC TCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	4	0.2500	760	c.126 others(777): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGGAAAGAGGGAGGGGGGAGAGGGA GAGGGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAGAGAGGGAGA AGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAGGGGAAGAGG GGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGGAGAGAGGGAG GGGGGAGAGGGAGAGGGGGGAGAGGAGGAGAGGGGGGGAGAGGGGGAGAC AGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGGGGGAGG GAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGGGGG AGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGG GGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAGAG GGAGAGGGGGAGAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGG GGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGGGGG AGAGGGAAGAGAGGGGAGGGAGGGGGGGTGAGAGGGGAGGGAGGGAGAGG GGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGGAGAGGG GGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGA GAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GRIN2A_chr16_9748408_10187428	10040002	C C	CACACACA others(753): Show CACACACACATCCACACTATACATACACGCTCGCAACTTCGCACGCTCAC AGTGCACACACACCCACAAACACACCCAACACACACATCCACACCACGCA AATACACTGCACACACACGCAACACAACCATACCACACACACAAATACAC AACACACACATCTACACCATACACACTCGCAACTTCACACTCACAGTGCA CACGTGCACACCCACAAATGCACCCAATACACACATCTACACCAAGCACA CAAATAAACTACACACAGAACATACATCCACACAATACACAACACACACA CAACTTCACAGTGCACACGCACTCACCCACAAACATACCCAACACATACG TCCACACCACACACACAAATACACCACACACATCCACACCACACACACAA ATACACCACACACATCCACACCACACACACAAACACACTACACACACATC CACACCACACACAAATACACAACACACACATCCACACACCACACACACAA ATACGCTACACACATCCACACACCACACAAATACACCACACCATCCACAC ACCACACACACAAATACACACCATCCACACCACACACAAATACACAACAC ACACATCCACACCACACACACAAATACACAACACACAACACACACATCCA CACCACACACATACACTACACACATCCCCACCACACACACAAATACACTA CACACATCCCCATCACACACACAAATACACTACACACATCCACACCACAC ACAAATACACT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0043 a0001c0001t0036g0043	1	2	0.5000	760	c.415 others(781): Show c.415-101452_415-101451insAGTGTATTTGTGTGTGGTGTGGAT GTGTGTAGTGTATTTGTGTGTGTGATGGGGATGTGTGTAGTGTATTTGTG TGTGTGGTGGGGATGTGTGTAGTGTATGTGTGTGGTGTGGATGTGTGTGT TGTGTGTTGTGTATTTGTGTGTGTGGTGTGGATGTGTGTGTTGTGTATTT GTGTGTGGTGTGGATGGTGTGTATTTGTGTGTGTGGTGTGTGGATGGTGT GGTGTATTTGTGTGGTGTGTGGATGTGTGTAGCGTATTTGTGTGTGTGGT GTGTGGATGTGTGTGTTGTGTATTTGTGTGTGGTGTGGATGTGTGTGTAG TGTGTTTGTGTGTGTGGTGTGGATGTGTGTGGTGTATTTGTGTGTGTGGT GTGGATGTGTGTGGTGTATTTGTGTGTGTGGTGTGGACGTATGTGTTGGG TATGTTTGTGGGTGAGTGCGTGTGCACTGTGAAGTTGTGTGTGTGTTGTG TATTGTGTGGATGTATGTTCTGTGTGTAGTTTATTTGTGTGCTTGGTGTA GATGTGTGTATTGGGTGCATTTGTGGGTGTGCACGTGTGCACTGTGAGTG TGAAGTTGCGAGTGTGTATGGTGTAGATGTGTGTGTTGTGTATTTGTGTG TGTGGTATGGTTGTGTTGCGTGTGTGTGCAGTGTATTTGCGTGGTGTGGA TGTGTGTGTTGGGTGTGTTTGTGGGTGTGTGTGCACTGTGAGCGTGCGAA GTTGCGAGCGTGTATGTATAGTGTGGATGTGTGTGT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	2/12			chr16	TogoVar
GRIN2A_chr16_9748408_10187428	10040002	C C	CACACACA others(753): Show CACACACACATCCACACTATACATACACGCTCGCAACTTCGCACGCTCAC AGTGCACACACACCCACAAACACACCCAACACACACATCCACACCACGCA AATACACTGCACACACACGCAACACAACCATACCACACACACAAATACAC AACACACACATCTACACCATACACACTCGCAACTTCACACTCACAGTGCA CACGTGCACACCCACAAATGCACCCAATACACACATCTACACCAAGCACA CAAATAAACTACACACAGAACATACATCCACACAATACACAACACACACA CAACTTCACAGTGCACACGCACTCACCCACAAACATACCCAACACATACG TCCACACCACACACACAAATACACCACACACATCCACACCACACACACAA ATACACCACACACATCCACACCACACACACAAATACACTACACACACATC CACACCACACACAAATACACAACACACACATCCACACACCACACACACAA ATACGCTACACACATCCACACACCACACAAATACACCACACCATCCACAC ACCACACACACAAATACACACCATCCACACCACACACAAATACACAACAC ACACATCCACACCACACACACAAATACACAACACACAACACACACATCCA CACCACACACATACACTACACACATCCCCACCACACACACAAATACACTA CACACATCCCCATCACACACACAAATACACTACACACATCCACACCACAC ACAAATACACT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01106.hp2 others(26): Show HG00735.hp2 HG00741.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01515.hp1 HG01943.hp2 HG02132.hp2 HG02155.hp2 HG02280.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03516.hp2 NA18952.hp2 NA18954.hp2 NA18983.hp1 NA18988.hp1 NA19043.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0021 a0001c0001t0041 a0001c0001t0054 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0018 a0001c0002t0047 a0001c0002t0059 a0001c0003t0004 a0001c0004t0021 a0001c0008t0003	a0001c0001t0001g0031 a0001c0001t0001g0098 a0001c0001t0001g0143 others(26): Show a0001c0001t0001g0031 a0001c0001t0001g0098 a0001c0001t0001g0143 a0001c0001t0002g0041 a0001c0001t0002g0099 a0001c0001t0002g0142 a0001c0001t0003g0010 a0001c0001t0003g0061 a0001c0001t0005g0052 a0001c0001t0005g0135 a0001c0001t0010g0044 a0001c0001t0010g0055 a0001c0001t0021g0111 a0001c0001t0041g0011 a0001c0001t0054g0012 a0001c0002t0001g0094 a0001c0002t0005g0128 a0001c0002t0006g0093 a0001c0002t0007g0109 a0001c0002t0007g0134 a0001c0002t0009g0032 a0001c0002t0009g0075 a0001c0002t0009g0076 a0001c0002t0018g0163 a0001c0002t0047g0066 a0001c0002t0059g0074 a0001c0003t0004g0116 a0001c0004t0021g0073 a0001c0008t0003g0065	29	30	0.9667	760	c.415 others(781): Show c.415-101452_415-101451insAGTGTATTTGTGTGTGGTGTGGAT GTGTGTAGTGTATTTGTGTGTGTGATGGGGATGTGTGTAGTGTATTTGTG TGTGTGGTGGGGATGTGTGTAGTGTATGTGTGTGGTGTGGATGTGTGTGT TGTGTGTTGTGTATTTGTGTGTGTGGTGTGGATGTGTGTGTTGTGTATTT GTGTGTGGTGTGGATGGTGTGTATTTGTGTGTGTGGTGTGTGGATGGTGT GGTGTATTTGTGTGGTGTGTGGATGTGTGTAGCGTATTTGTGTGTGTGGT GTGTGGATGTGTGTGTTGTGTATTTGTGTGTGGTGTGGATGTGTGTGTAG TGTATTTGTGTGTGTGGTGTGGATGTGTGTGGTGTATTTGTGTGTGTGGT GTGGATGTGTGTGGTGTATTTGTGTGTGTGGTGTGGACGTATGTGTTGGG TATGTTTGTGGGTGAGTGCGTGTGCACTGTGAAGTTGTGTGTGTGTTGTG TATTGTGTGGATGTATGTTCTGTGTGTAGTTTATTTGTGTGCTTGGTGTA GATGTGTGTATTGGGTGCATTTGTGGGTGTGCACGTGTGCACTGTGAGTG TGAAGTTGCGAGTGTGTATGGTGTAGATGTGTGTGTTGTGTATTTGTGTG TGTGGTATGGTTGTGTTGCGTGTGTGTGCAGTGTATTTGCGTGGTGTGGA TGTGTGTGTTGGGTGTGTTTGTGGGTGTGTGTGCACTGTGAGCGTGCGAA GTTGCGAGCGTGTATGTATAGTGTGGATGTGTGTGT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	2/12			chr16	TogoVar
HNF4A_chr20_44350699_44437845	44404778	T T	TGTTTGTT others(753): Show TGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGTGT ATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTAA GTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGACTG CTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTG TGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGC GTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGT GGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGTGGACTG TGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCATGT GTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCACG TGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGTGT GTGTGCGTGTGTGGACTGTAGTGTGTGTGTGCTTGTGTGTGGACTGTGTG TGTGTGGACTGTAGTGTGTGTGCGTGACTGTGGTGTGTGTGCATGACTGT GTGGTGTGTGTGTGCATGTGTGGATTGTGTGGTGTGTGTGGACTGTGGGT GTGTGGTGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCCTGTGTGTGGAC TGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGATTGTGTGGTGTG TGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0176 a0001c0001t0007g0176	1	163	0.0061	760	c.50- others(775): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACT CTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGT GTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTG GACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGTGCT TGTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGTGTGCGTGACTGTGG TGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGGATTGTGTGGT GTGTGTGGACTGTGGGTGTGTGGTGTGTGTGTGTGCTTGTGTGTGGTGTG TGTGCCTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACT GTGGATTGTGTGGTGTGTGTGTGCGCACGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(753): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCAC TCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	77	0.0130	760	c.-27 others(771): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(753): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATAC CGGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTA CATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTAC TACATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0150 a0004c0008t0002g0150	1	6	0.1667	760	c.368 others(777): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTA CGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LSS_chr21_46183446_46233774	46184511	C C	CCAACCCA others(753): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCA GTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACC AACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACTCAGGACC ACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTC AGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0089 a0002c0002t0020g0089	1	111	0.0090	760	c.65 others(771): Show c.6592_*6593insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGG TGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGTTGGTGGTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGT GTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3934		chr21	TogoVar
LSS_chr21_46183446_46233774	46184564	C C	CCAACCCA others(753): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCA GTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACC AACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACTCAGGACC ACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTC AGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG04228.hp2 HG02738.hp1 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0080 a0002c0002t0002g0116 a0002c0002t0002g0080 a0002c0002t0002g0116	2	347	0.0058	760	c.65 others(771): Show c.6539_*6540insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGG TGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGTTGGTGGTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGT GTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3881		chr21	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(753): Show GCCCTCCCGTCCCGTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCC TTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTCCTCCCTCCCCTCCC CTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCC CCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCT CCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCACCCTCCCCTCCCCT CCCCTCCCCTTCCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCCCCTC CCCTCCCCTCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCTCC CCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCCTT CCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCC CCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCG CCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCT CCCCCTCCCTTCCTCTCCCCTCCCCCCTCTCCTCCCCCTCCCTTCCCCTC CGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTC CCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTC CTCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0055 a0001c0008t0001g0055	1	8	0.1250	760	c.115 others(777): Show c.1157+145_1157+146insGTCCCGTCCCCCCTCCCCTCCCCTCCCT TCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTC CTCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCT CCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTC CCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCA CCCTCCCCTCCCCTCCCCTCCCCTTCCCCTTCCCCTCCCCTCCCCTCCAC CCTCGCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCCTTCCCCTCCC CTCCCCTTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCC TTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCC TACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTG CCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTC ACCTCCCCTTCCCTCCCCCTCCCTTCCTCTCCCCTCCCCCCTCTCCTCCC CCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCC CACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCC TGTCCCCACTCCTCCTCTCCCCTCCCCCTCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(753): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGG GGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGG GTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAGTGGGAAGTGGGGG TGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTT GGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGG GGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAA GAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAG TGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGT GGGGGACCTGGGGGTGGAGGGAGTGGGAAGTCGGGGTGTTGGGGGGGGAG TGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAG TGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAGTGGGAAGT GGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGG AGGTTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	164	0.0061	760	c.-10 others(771): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCA GGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAA GTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCGACTT CCCACTCCCTCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTC CCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCC CACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCC CCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCCC TCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCC ACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCTCCAC CCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACC TCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCC ACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCA CTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCA CTCCCCCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCC ACTCCCTCCAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(753): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATTTTATATATATATAAAA TAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATAAAATAAGATTTTATATATATATATAAAA TAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAG ATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATCTTATTTTATATATATTTTATATAT ATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	242	0.0041	760	c.-5+ others(775): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATA AAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATATAAA ATCTTATTTTATATATATAAAATATATATAAAATCTTATTTTATATATAT ATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATA TAAAATAAGATTTTATATATATAAAATAAGATTTTATATATATAAAATAT ATATAAAGTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTT CATATATATAAAATATAAAGTAAGATTTTATATATATATAAAATATATAT AAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAAT AAGATTTTATATATATATAAAATATATAAAAAATATATATCAAATATATA TAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(753): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGG CCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCAC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCAC CCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGC TCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCC ACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCC CTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGC GCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01258.hp2 HG01261.hp2 others(3): Show HG01123.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01516.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	189	0.0317	760	c.28 others(771): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACC CGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTC AGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCT CAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCC TCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCG CACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTC CACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTC CCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAG TGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTC TCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCC TCCCTCAGTCCCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(753): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACCGGGCGGCTGGCCGGGTGGGGGGGCTGACCC CCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCA CTTCCCAGTAGGGGTGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	116	0.0086	760	c.58 others(771): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGC CTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCA GCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCA GCCGCCCGGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(753): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACCGGGCGGCTGGCCGGGTGGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGTGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	116	0.0086	760	c.58 others(771): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCC TCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCCACCCGGCCA GCCGCCCGGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(753): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACCGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGTGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 NA18994.hp1 HG01255.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	117	0.0171	760	c.58 others(771): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCC TCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCGGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(753): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACCGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGTGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	116	0.0086	760	c.58 others(771): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCC TCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCGGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCC GCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(753): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACCGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGTGGCCGGGCAGAGGCACCCCTCACCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA19059.hp1 NA19059.hp2 NA18991.hp1 NA19059.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	118	0.0254	760	c.58 others(771): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGTGCC TCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCGGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCC GCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NFATC1_chr18_79390930_79534323	79532217	C C	CCCCCCGC others(753): Show CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGAC CCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	295	0.0034	760	c.46 others(771): Show c.4640_*4641insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCC CGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2895		chr18	TogoVar
NLRP4_chr19_55831540_55886855	55849944	A A	AATGTCTG others(753): Show AATGTCTGTAGCCGCGGTGTAATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTAATTTCCGTAGCTGTGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGTAGCTGTGGTGTGATTTCCGTAGCTGTGGTGTGATTTCCGTA GCTGTGGTGTGATTTCCGTAGCTGTGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTA GCTGCGGTGTAATTTCCGAGACTGCGGTGTAATTTCCGAGACTGTGGTGT AATTTCCGTAGCTGTGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTA GCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAG ACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGTGGCTGCGGTGT AATTTCCGTGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTA GCTGCGGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0237 a0002c0002t0011g0237	1	378	0.0026	760	c.-65 others(777): Show c.-65-2070_-65-2069insGTCTGTAGCCGCGGTGTAATTTCCGAGA CTGCGGTGTGATTTCCGAGACTGCGGTGTAATTTCCGTAGCTGTGGTGTG ATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGTGGTGTGATTTCCGTAG CTGTGGTGTGATTTCCGTAGCTGTGGTGTGATTTCCGTAGCTGTGGTGTG ATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAG CTGCGGTGTGATTTCCGTAGCTGCGGTGTAATTTCCGAGACTGCGGTGTA ATTTCCGAGACTGTGGTGTAATTTCCGTAGCTGTGGTGTGATTTCCGAGA CTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTG ATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGGAATTTCCGAGA CTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGGA ATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGAGG CTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTG ATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGA CTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTG ATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGA CTGCGGTGTGATTTCCGTAGCTGCGGTGTGAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(753): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0099	1	218	0.0046	760	c.129 others(777): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(753): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	218	0.0046	760	c.129 others(777): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAAAAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(753): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCTGAATA GATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	50	0.0200	760	c.129 others(777): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAG ATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTA TTCTGAAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(753): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCT TTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCT GAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	50	0.0200	760	c.129 others(777): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCAGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(753): Show TATATATAATTATATATAATTATATATAATTATATAATTATATATAATTG TATATAATTATTTATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATATTATATAATTATATAATTATATATTAT TTATTATATAATATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATATATTATTTATTATATAATTATATATTATTTATTATATAT ATTATTTATTATATAATTATATATTATGTATTATATAATTATATAATTAT ATATTATGTATTATATAATTATATATTATGTATTATATAATTATATAATT ATATATTATGTATTATATAATTATATATTATGTATTATATAATTATATAA TTATATATTATGTATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTAT ATAATTATATAATTATATATTATTTATTATATAATGATATAATTATATAT TATTTATTATATAATTATATATTATTTATTATATAATTATATATTATTTA TTACATAAATATATATTATTTATTACATAAGTATATATCACTTATTATAT AATTGCATATAATTATTTATTATATAATTGCATATAATTATTTATTATAT AATTGTATATAGTTATTTATTATATAATTGTATATAGTTATTTATTATAT AATTCTATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG02922.hp1 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0002 a0001c0003t0001 a0001c0004t0002	a0001c0003t0001g0043 a0001c0004t0002g0050 a0001c0003t0001g0043 a0001c0004t0002g0050	2	26	0.0769	760	c.862 others(777): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATAATTATATATAATTGTATATAATTATTTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATATTATATAA TTATATAATTATATATTATTTATTATATAATATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATATATTATTTATTATATAATTA TATATTATTTATTATATATATTATTTATTATATAATTATATATTATGTAT TATATAATTATATAATTATATATTATGTATTATATAATTATATATTATGT ATTATATAATTATATAATTATATATTATGTATTATATAATTATATATTAT GTATTATATAATTATATAATTATATATTATGTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA ATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTATA TAATGATATAATTATATATTATTTATTATATAATTATATATTATTTATTA TATAATTATATATTATTTATTACATAAATATATATTATTTATTACATAAG TATATATCACTTATTATATAATTGCATATAATTATTTATTATATAATTGC ATATAATTATTTATTATATAATTGTATATAGTTATTTATTATATAATTGT ATATAGTTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(753): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	140	0.0071	760	c.309 others(779): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT GCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(753): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTGCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	140	0.0071	760	c.309 others(779): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT GCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(753): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGC CCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGG TTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGA GGAGTAGATAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCG GCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGT GGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGT GAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0097 a0004c0097	a0004c0097t0003 a0004c0097t0003	a0004c0097t0003g0173 a0004c0097t0003g0173	1	212	0.0047	760	c.326 others(777): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTAT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTATCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGC ACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACC CGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTT CCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCA GCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCA CCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(753): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGC CCTATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGTGG TTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGA GGAGTAGATAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCG GCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGT GGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGT GAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0004 a0004	a0004c0103 a0004c0103	a0004c0103t0003 a0004c0103t0003	a0004c0103t0003g0172 a0004c0103t0003g0172	1	212	0.0047	760	c.326 others(777): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTAT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTATCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT ATCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGC ACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACC CGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTT CCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCA GCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCA CCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(753): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGC CCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGG TTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGA GGAGTAGATAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCG GCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGT GGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGT GAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0086 a0004c0086	a0004c0086t0003 a0004c0086t0003	a0004c0086t0003g0243 a0004c0086t0003g0243	1	167	0.0060	760	c.321 others(777): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTAT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTATCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGC ACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACC CGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTT CCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCA GCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCA CCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(753): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGC CCTATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGTGG TTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGA GGAGTAGATAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCG GCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGATAGCGGGTGGACCTGT GGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGT GAGGAGTAGAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0004 a0004	a0004c0090 a0004c0090	a0004c0090t0003 a0004c0090t0003	a0004c0090t0003g0239 a0004c0090t0003g0239	1	167	0.0060	760	c.321 others(777): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTAT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTATCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT ATCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGC ACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACC CGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTT CCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCA GCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCA CCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PTDSS2_chr11_445279_496399	459074	A A	AGGACCTG others(753): Show AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTG CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTGCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTGCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTGCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTGCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	308	0.0032	760	c.183 others(777): Show c.183-1092_183-1091insACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTG CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTGCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTGCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTGCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTGCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
RANBP10_chr16_67718070_67811560	67809198	G G	GGTGGCTC others(753): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGC CTATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCC GGGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCT GGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACG GTGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGAT TGCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCC TGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATT GGCCAGGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	53	0.0189	760	c.-26 others(771): Show c.-2663_-2662insTGTGCCTGGCCAATATTTTGTATTGCTATTAGAA ACAGGGTTTTTTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGACTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAGAAACAGGGTTTTTGCCATATTGTCTAGC CTGGTCTCGAACTCCTGAGCTCAGGCAATCTGCCTGCCTTGGCCTCCCAA AGTAATAGGATTATAGGGGTGAGCCACCGTGCCTGGCTGTGCTTTTTTTT TTGAGATGGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGCGAGAT CTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGAGACTATAGGCACCCGCCACCACGGCCGGCTA ATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAG GATGGCCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCAC	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding		2639		chr16	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(753): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	253	0.0040	760	c.66+ others(775): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPA3_chr7_7631518_7723607	7679038	T T	TATAAATA others(753): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02886.hp1 HG01081.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0248 a0001c0001t0021g0247 a0001c0001t0002g0248 a0001c0001t0021g0247	2	236	0.0085	760	c.-75 others(779): Show c.-758+6791_-758+6792insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATATT TATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATA TAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAAT ATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATC TATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATATG TATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAA TATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAA TATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAA TATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(753): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTT TATAGATAAAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0254 a0001c0001t0004g0036 a0001c0001t0004g0254	2	28	0.0714	760	c.-75 others(779): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATAAACTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAT ATAAATATATATTTATAAACTAAATATATAAATATATGTTTATAAACTAA ATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAA CTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATA AATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(753): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTT TATAGATAAAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	27	0.0370	760	c.-75 others(779): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATAAACTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAT ATAAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAA ATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAA CTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATA AATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	305014	G G	GGGGGACA others(753): Show GGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGA CAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGA GGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCAAGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGA GAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGG ACAGGGCGGGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0090	1	128	0.0078	760	c.351 others(779): Show c.351+14405_351+14406insTCCCGCCCTGTCCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTTGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCC CCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar

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